Incidental Mutation 'IGL02026:Ccdc47'
| ID |
184183 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccdc47
|
| Ensembl Gene |
ENSMUSG00000078622 |
| Gene Name |
coiled-coil domain containing 47 |
| Synonyms |
asp4, calumin, 2610204L23Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02026
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
106090086-106107349 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106095853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 281
(E281G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002043]
[ENSMUST00000106865]
[ENSMUST00000137915]
|
| AlphaFold |
Q9D024 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002043
AA Change: E281G
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000002043
Gene: ENSMUSG00000078622
AA Change: E281G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
23 |
38 |
N/A |
INTRINSIC |
|
Pfam:DUF1682
|
134 |
467 |
2.1e-98 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106865
|
| SMART Domains |
Protein: ENSMUSP00000102478
Gene: ENSMUSG00000078622
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1682
|
1 |
158 |
9.4e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122989
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000125383
AA Change: E27G
|
| SMART Domains |
Protein: ENSMUSP00000122736
Gene: ENSMUSG00000078622
AA Change: E27G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1682
|
1 |
212 |
1.3e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137915
|
| SMART Domains |
Protein: ENSMUSP00000117127
Gene: ENSMUSG00000078622
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1682
|
13 |
138 |
3.1e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153982
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: More than half of homozygous null mice die at early embryonic stages while the rest die shortly after birth. Mouse embryonic fibroblasts display insufficient Ca2+ contents in intracellular stores, impaired store-operated Ca2+ entry, and enhanced endoplasmic reticulum stress-induced apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
A |
T |
14: 68,809,251 (GRCm39) |
V237E |
possibly damaging |
Het |
| Amh |
T |
C |
10: 80,641,242 (GRCm39) |
L54P |
probably damaging |
Het |
| Aoc3 |
T |
C |
11: 101,228,421 (GRCm39) |
S743P |
probably benign |
Het |
| Arhgap23 |
T |
A |
11: 97,342,407 (GRCm39) |
W19R |
probably damaging |
Het |
| Atm |
C |
T |
9: 53,353,717 (GRCm39) |
|
probably null |
Het |
| Col7a1 |
A |
C |
9: 108,797,097 (GRCm39) |
K1650N |
probably damaging |
Het |
| Cstdc5 |
C |
A |
16: 36,187,848 (GRCm39) |
V6F |
possibly damaging |
Het |
| Evi2b |
T |
C |
11: 79,406,613 (GRCm39) |
S321G |
probably damaging |
Het |
| Fancm |
T |
G |
12: 65,152,508 (GRCm39) |
V988G |
probably benign |
Het |
| Gbp2 |
A |
G |
3: 142,339,241 (GRCm39) |
Y431C |
probably damaging |
Het |
| Gclc |
T |
C |
9: 77,699,342 (GRCm39) |
V530A |
probably benign |
Het |
| Gm5885 |
T |
C |
6: 133,508,291 (GRCm39) |
|
noncoding transcript |
Het |
| Hlcs |
A |
T |
16: 93,935,564 (GRCm39) |
I576N |
probably damaging |
Het |
| Hnrnpul1 |
A |
T |
7: 25,444,587 (GRCm39) |
F240L |
probably damaging |
Het |
| Itgb6 |
C |
A |
2: 60,458,410 (GRCm39) |
V448F |
possibly damaging |
Het |
| Lama1 |
A |
G |
17: 68,116,287 (GRCm39) |
T2385A |
possibly damaging |
Het |
| Lamc2 |
C |
T |
1: 153,020,482 (GRCm39) |
|
probably benign |
Het |
| Lrrc32 |
C |
T |
7: 98,148,767 (GRCm39) |
R516C |
probably benign |
Het |
| Lrrtm3 |
T |
C |
10: 63,924,231 (GRCm39) |
N312S |
probably damaging |
Het |
| Ltbp4 |
G |
A |
7: 27,026,842 (GRCm39) |
R468* |
probably null |
Het |
| Man1a |
T |
C |
10: 53,890,569 (GRCm39) |
E373G |
probably damaging |
Het |
| Myo1h |
A |
T |
5: 114,461,505 (GRCm39) |
Q250L |
probably null |
Het |
| Myo9a |
T |
C |
9: 59,813,245 (GRCm39) |
V2077A |
probably damaging |
Het |
| Or14j3 |
A |
G |
17: 37,900,298 (GRCm39) |
|
probably benign |
Het |
| Otud5 |
C |
T |
X: 7,738,232 (GRCm39) |
|
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,260,772 (GRCm39) |
S332G |
probably benign |
Het |
| Pde8b |
A |
G |
13: 95,170,869 (GRCm39) |
V549A |
probably damaging |
Het |
| Pgap1 |
A |
T |
1: 54,533,978 (GRCm39) |
M645K |
probably benign |
Het |
| Pm20d1 |
A |
T |
1: 131,729,497 (GRCm39) |
R175* |
probably null |
Het |
| Polr2b |
A |
G |
5: 77,480,099 (GRCm39) |
N585S |
probably benign |
Het |
| Recql |
T |
A |
6: 142,312,394 (GRCm39) |
K41* |
probably null |
Het |
| Sccpdh |
A |
T |
1: 179,505,634 (GRCm39) |
H138L |
possibly damaging |
Het |
| Sec31a |
A |
T |
5: 100,517,485 (GRCm39) |
S951T |
probably benign |
Het |
| Slc44a4 |
A |
T |
17: 35,140,832 (GRCm39) |
|
probably benign |
Het |
| Tchhl1 |
G |
T |
3: 93,377,862 (GRCm39) |
A189S |
probably damaging |
Het |
| Tdrd12 |
G |
A |
7: 35,203,658 (GRCm39) |
|
probably benign |
Het |
| Tesl2 |
T |
G |
X: 23,824,233 (GRCm39) |
H314P |
probably damaging |
Het |
| Trbv12-1 |
A |
G |
6: 41,090,928 (GRCm39) |
D100G |
probably damaging |
Het |
| Ttll13 |
T |
A |
7: 79,910,127 (GRCm39) |
S757T |
probably benign |
Het |
| Vipas39 |
T |
A |
12: 87,298,483 (GRCm39) |
|
probably benign |
Het |
| Vmn1r64 |
G |
A |
7: 5,886,649 (GRCm39) |
P298L |
possibly damaging |
Het |
| Vmn1r81 |
A |
G |
7: 11,994,432 (GRCm39) |
S59P |
probably damaging |
Het |
| Vsx1 |
A |
T |
2: 150,530,447 (GRCm39) |
V145D |
probably benign |
Het |
| Wdfy4 |
T |
A |
14: 32,815,257 (GRCm39) |
N1586I |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,403,726 (GRCm39) |
|
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zzef1 |
T |
A |
11: 72,772,164 (GRCm39) |
M1707K |
probably benign |
Het |
|
| Other mutations in Ccdc47 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Ccdc47
|
APN |
11 |
106,094,358 (GRCm39) |
splice site |
probably null |
|
|
IGL01890:Ccdc47
|
APN |
11 |
106,096,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03343:Ccdc47
|
APN |
11 |
106,095,788 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4677001:Ccdc47
|
UTSW |
11 |
106,099,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1508:Ccdc47
|
UTSW |
11 |
106,093,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2239:Ccdc47
|
UTSW |
11 |
106,092,960 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3103:Ccdc47
|
UTSW |
11 |
106,093,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3935:Ccdc47
|
UTSW |
11 |
106,092,823 (GRCm39) |
unclassified |
probably benign |
|
|
R4783:Ccdc47
|
UTSW |
11 |
106,094,430 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5150:Ccdc47
|
UTSW |
11 |
106,096,265 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5331:Ccdc47
|
UTSW |
11 |
106,101,176 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5362:Ccdc47
|
UTSW |
11 |
106,099,039 (GRCm39) |
splice site |
probably null |
|
|
R5417:Ccdc47
|
UTSW |
11 |
106,101,176 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5420:Ccdc47
|
UTSW |
11 |
106,101,176 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5473:Ccdc47
|
UTSW |
11 |
106,095,855 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6297:Ccdc47
|
UTSW |
11 |
106,094,427 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6449:Ccdc47
|
UTSW |
11 |
106,095,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6981:Ccdc47
|
UTSW |
11 |
106,093,563 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7136:Ccdc47
|
UTSW |
11 |
106,095,830 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7170:Ccdc47
|
UTSW |
11 |
106,093,304 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7340:Ccdc47
|
UTSW |
11 |
106,091,799 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7799:Ccdc47
|
UTSW |
11 |
106,101,143 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8335:Ccdc47
|
UTSW |
11 |
106,099,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8335:Ccdc47
|
UTSW |
11 |
106,099,084 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8487:Ccdc47
|
UTSW |
11 |
106,092,971 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8752:Ccdc47
|
UTSW |
11 |
106,095,818 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9157:Ccdc47
|
UTSW |
11 |
106,093,208 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9504:Ccdc47
|
UTSW |
11 |
106,101,155 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2014-05-07 |
Incidental Mutation